|OBO ID: DOID:0110724|
|Term Name:||neuronal ceroid lipofuscinosis 8 northern epilepsy variant||Search Ontology:|
|Definition:||A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (2)|
|Ontology:||Human Disease (DOID:0110724)|
|is a type of:||
OTHER neuronal ceroid lipofuscinosis 8 northern epilepsy variant PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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